Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Kirill V. Savostyanov"'
Autor:
Diana I. Salikhova, Margarita O. Shedenkova, Anastasya K. Sudina, Ekaterina V. Belousova, Irina A. Krasilnikova, Anastasya A. Nekrasova, Zlata A. Nefedova, Daniil A. Frolov, Timur Kh. Fatkhudinov, Andrey V. Makarov, Alexander M. Surin, Kirill V. Savostyanov, Dmitry V. Goldshtein, Zanda V. Bakaeva
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 18 (2024)
Currently, stem cells technology is an effective tool in regenerative medicine. Cell therapy is based on the use of stem/progenitor cells to repair or replace damaged tissues or organs. This approach can be used to treat various diseases, such as car
Externí odkaz:
https://doaj.org/article/5c888d18a3214fff9434c731218e231b
Autor:
Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova
Publikováno v:
Педиатрическая фармакология, Vol 17, Iss 5, Pp 459-466 (2020)
Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such
Externí odkaz:
https://doaj.org/article/0084474a21794998a5bad3ea320fbcff
Autor:
Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 12976 (2022)
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low
Externí odkaz:
https://doaj.org/article/eccd334944af4f3d90fdb2bc50e4a948
Autor:
Ivan A. Kriulin, E. I. Alexeeva, Tatyana M. Dvoryakovskaya, Bella I. Bursagova, Kirill V. Savostyanov, Natalya V. Zhurkova, Alexander A. Pushkov, Anatoli V. Anikin, Artem M. Nesterov
Publikováno v:
Вопросы современной педиатрии, Vol 18, Iss 4, Pp 270-276 (2019)
Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These
Externí odkaz:
https://doaj.org/article/e397ef87540c4d9aa58837f5c1376160
Autor:
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov
Publikováno v:
Педиатрическая фармакология, Vol 16, Iss 1, Pp 30-35 (2019)
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the
Externí odkaz:
https://doaj.org/article/a2f045dcae64455cb90c0763de04da74
Autor:
Nataliya A. Sdvigova, Elena N. Basargina, Dmitry V. Ryabtsev, Kirill V. Savostyanov, Alexander A. Pushkov, Natalia V. Zhurkova, Grigory V. Revunenkov, Olga P. Zharova
Publikováno v:
Вопросы современной педиатрии, Vol 17, Iss 2, Pp 157-165 (2018)
Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic hea
Externí odkaz:
https://doaj.org/article/329ecdcffeb54859a6db3090eef93536
Autor:
Yulia V. Gorinova, Kirill V. Savostyanov, Alexandr A. Pushkov, Alexey G. Nikitin, Evgeniy L. Pen’kov, Stanislav A. Krasovskiy, Olga I. Simonova, L. S. Namazova-Baranova
Publikováno v:
Вопросы современной педиатрии, Vol 17, Iss 1, Pp 61-69 (2018)
Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features
Externí odkaz:
https://doaj.org/article/f82b12afd6fb4263a2d13660a6b28628
Autor:
Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina
Publikováno v:
Вопросы современной педиатрии, Vol 16, Iss 6, Pp 457-467 (2018)
Homocystinuria is a genetically heterogeneous hereditary disease from the group of aminoacidopathies caused by a metabolic disorder of sulphur-containing amino acids, primarily methionine. The article presents the etiopathogenetic, diagnostic and the
Externí odkaz:
https://doaj.org/article/5f29b37e5a434ef1a21f1a00fa3b8298
Publikováno v:
Вопросы современной педиатрии, Vol 17, Iss 5, Pp 364-366 (2018)
Guidelines are given on terminology, nomenclature and determination of the clinical significance of various variants of the genome nucleotide sequence. Information on the use of specialised databases and literary sources when describing and interpret
Externí odkaz:
https://doaj.org/article/14ee7796a5664acab94d2449903ec69b
Autor:
Leyla S. Namazova-Baranova, Olga V. Ginter, Tatyana A. Polunina, Irina V. Davydova, Kirill V. Savostyanov, Alexandr A. Pushkov, Natalya V. Jourkova, Tatyana Y. Mospan
Publikováno v:
Вопросы современной педиатрии, Vol 16, Iss 5, Pp 392-398 (2017)
Chromosomal diseases, in particular microdeletions, determine the child's condition as well as the prognosis for a disease even at birth. With timely identified chromosomal abnormalities, we can diagnose not only obvious but also hidden disorders in
Externí odkaz:
https://doaj.org/article/a11ee9564d5d42f1b9b1e375576fda9d